Congenital muscular dystrophy and congenital myopathy
Gene: ISCUEnsemblGeneIds (GRCh38): ENSG00000136003
EnsemblGeneIds (GRCh37): ENSG00000136003
OMIM: 611911, Gene2Phenotype
ISCU is in 9 panels
2 reviews
Anna Sarkozy (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy with lactic acidosis, hereditary, 255125
Publications
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Although 9 families reported with the phenotype with genetic confirmation, genealogical mapping has been able to link them to a common ancestor. This phenotype appears to be relevant to Swedish populations therefore. Not widely reported and not of congenital onset (childhood mainly with lactic acidosis), therefore considered red for this panel.Created: 3 Feb 2017, 12:04 p.m.
Although 9 families reported with the phenotype with genetic confirmation, genealogical mapping has been able to link them to a common ancestor. This phenotype appears to be relevant to Swedish populations therefore. Not widely reported and not of congenital onset (childhood mainly with lactic acidosis), therefore considered red for this panel.Created: 31 Jan 2017, 9:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy with lactic acidosis, hereditary 255125
Publications
- PMID 18296749
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Radboud University Medical Center, Nijmegen
- Expert Review Red
- Phenotypes
-
- Myopathy with lactic acidosis, hereditary, OMIM:255125
- OMIM
- 611911
- Clinvar variants
- Variants in ISCU
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Congenital myopathy
- Possible mitochondrial disorder - nuclear genes
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Arthrogryposis
- Rhabdomyolysis and metabolic muscle disorders
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: ISCU was added gene: ISCU was added to Congenital muscular dystrophy and congenital myopathy. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: ISCU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISCU were set to 18296749 Phenotypes for gene: ISCU were set to Myopathy with lactic acidosis, hereditary, OMIM:255125 Penetrance for gene: ISCU were set to Complete